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DNAJC13 genetic variants in parkinsonism
Author(s) -
Gustavsson Emil K.,
Trinh Joanne,
Guella Ilaria,
VilariñoGüell Carles,
AppelCresswell Silke,
Stoessl A. Jon,
Tsui Joseph K,
McKeown Martin,
Rajput Alex,
Rajput Ali H.,
Aasly Jan O.,
Farrer Matthew J.
Publication year - 2015
Publication title -
movement disorders
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.352
H-Index - 198
eISSN - 1531-8257
pISSN - 0885-3185
DOI - 10.1002/mds.26064
Subject(s) - parkinsonism , missense mutation , genotyping , allele , minor allele frequency , genetics , degenerative disease , medicine , polymorphism (computer science) , central nervous system disease , mutation , allele frequency , genotype , disease , biology , gene
Abstract Background A novel mutation (p.N855S) in DNAJC13 has been linked to familial, late‐onset Lewy body parkinsonism in a Dutch–German–Russian Mennonite multi‐incident kindred. Methods DNAJC13 was sequenced in 201 patients with parkinsonism and 194 controls from Canada. Rare (minor allele frequency < 0.01) missense variants identified in patients were genotyped in two Parkinson's disease case–controls cohorts. Results Eighteen rare missense mutations were identified; four were observed in controls, three were observed in both patients and controls, and eleven were identified only in patients. Subsequent genotyping showed p.E1740Q and p.L2170W to be more frequent in patients, and p.R1516H being more frequent in controls. Additionally, p.P336A, p.V722L, p.N855S, p.R1266Q were seen in one patient each, and p.T1895M was found in two patients. Conclusion Although the contribution of rare genetic variation in DNAJC13 to parkinsonisms remains to be further elucidated, this study suggests that, in addition to p.N855S, other rare variants might affect disease susceptibility. © 2014 International Parkinson and Movement Disorder Society